|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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22992
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Lysine demethylase 2A |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
KDM2A |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
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CXXC8, FBL11, FBL7, FBXL11, JHDM1A, LILINA |
|
Chromosome
Chromosome number
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11 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11q13.2 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), w |
| UniProt ID |
Q9Y2K7
|
| Protein name |
Lysine-specific demethylase 2A (EC 1.14.11.27) (CXXC-type zinc finger protein 8) (F-box and leucine-rich repeat protein 11) (F-box protein FBL7) (F-box protein Lilina) (F-box/LRR-repeat protein 11) (JmjC domain-containing histone demethylation protein 1A) |
| Protein function |
Histone demethylase that specifically demethylates 'Lys-36' of histone H3, thereby playing a central role in histone code. Preferentially demethylates dimethylated H3 'Lys-36' residue while it has weak or no activity for mono- and tri-methylated |
| PDB |
2YU1
,
2YU2
,
4BBQ
,
6BYH
,
6C16
,
7UV9
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
|
PF17811
|
JHD |
303 → 360 |
Jumonji helical domain |
Domain |
|
PF02008
|
zf-CXXC |
563 → 609 |
CXXC zinc finger domain |
Domain |
|
PF16866
|
PHD_4 |
614 → 676 |
PHD-finger |
Domain |
|
PF00646
|
F-box |
889 → 935 |
F-box domain |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Widely expressed, with highest levels in brain, testis and ovary, followed by lung. {ECO:0000269|PubMed:10231032}. |
| Sequence |
MEPEEERIRYSQRLRGTMRRRYEDDGISDDEIEGKRTFDLEEKLHTNKYNANFVTFMEGK DFNVEYIQRGGLRDPLIFKNSDGLGIKMPDPDFTVNDVKMCVGSRRMVDVMDVNTQKGIE MTMAQWTRYYETPEEEREKLYNVISLEFSHTRLENMVQRPSTVDFIDWVDNMWPRHLKES QTESTNAILEMQYPKVQKYCLMSVRGCYTDFHVDFGGTSVWYHIHQGGKVFWLIPPTAHN LELYENWLLSGKQGDIFLGDRVSDCQRIELKQGYTFVIPSGWIHAVYTPTDTLVFGGNFL HSFNIPMQLKIYNIEDRTRVPNKFRYPFYYEMCWYVLERYVYCITNRSHLTKEFQKESLS MDLELNGLESGNGDEEAVDREPRRLSSRRSVLTSPVANGVNLDYDGLGKTCRSLPSLKKT LAGDSSSDCSRGSHNGQVWDPQCAPRKDRQVHLTHFELEGLRCLVDKLESLPLHKKCVPT GIEDEDALIADVKILLEELANSDPKLALTGVPIVQWPKRDKLKFPTRPKVRVPTIPITKP HTMKPAPRLTPVRPAAASPIVSGARRRRVRCRKCKACVQGECGVCHYCRDMKKFGGPGRM KQSCVLRQCLAPRLPHSVTCSLCGEVDQNEETQDFEKKLMECCICNEIVHPGCLQMDGEG LLNEELPNCWECPKCYQEDSSEKAQKRKMEESDEEAVQAKVLRPLRSCDEPLTPPPHSPT SMLQLIHDPVSPRGMVTRSSPGAGPSDHHSASRDERFKRRQLLRLQATERTMVREKENNP SGKKELSEVEKAKIRGSYLTVTLQRPTKELHGTSIVPKLQAITASSANLRHSPRVLVQHC PARTPQRGDEEGLGGEEEEEEEEEEEDDSAEEGGAARLNGRGSWAQDGDESWMQREVWMS VFRYLSRRELCECMRVCKTWYKWCCDKRLWTKIDLSRCKAIVPQALSGIIKRQPVSLDLS WTNISKKQLTWLVNRLPGLKDLLLAGCSWSAVSALSTSSCPLLRTLDLRWAVGIKDPQIR DLLTPPADKPGQDNRSKLRNMTDFRLAGLDITDATLRLIIRHMPLLSRLDLSHCSHLTDQ SSNLLTAVGSSTRYSLTELNMAGCNKLTDQTLIYLRRIANVTLIDLRGCKQITRKACEHF ISDLSINSLYCLSDEKLIQKIS
|
|
| Sequence length |
1162 |
| Interactions |
View interactions
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Ovarian cancer |
Ovarian clear cell cancer |
Knockdown of Either KDM2A or PAIP1 Suppresses the Growth of OCCC Cells |
35723366 |
CBGDA |
| Prostate cancer |
Prostate cancer |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
29619118 |
| Breast Neoplasms |
Associate
|
25029110, 26207617, 26416883, 33050392, 40427554 |
| Carcinoma Ductal |
Associate
|
25029110 |
| Carcinoma Hepatocellular |
Associate
|
34612138 |
| Carcinoma Intraductal Noninfiltrating |
Stimulate
|
25029110 |
| Carcinoma Non Small Cell Lung |
Associate
|
29619118 |
| Carcinoma Ovarian Epithelial |
Stimulate
|
30483796 |
| Carcinoma Renal Cell |
Associate
|
34391411, 35813477 |
| Carcinoma Squamous Cell |
Associate
|
29619118 |
| Colorectal Neoplasms |
Associate
|
33155208 |
| Diabetic Foot |
Associate
|
37726685 |
| Glioblastoma |
Associate
|
30483744 |
| Heart Defects Congenital |
Associate
|
36205932 |
| Neoplasm Metastasis |
Associate
|
30483796, 34117688 |
| Neoplasms |
Associate
|
26416883, 27537276, 33050392, 34117688, 35053178, 36991019 |
| Neoplasms |
Inhibit
|
26461474 |
| Neoplasms |
Stimulate
|
34391411 |
| Ovarian Neoplasms |
Associate
|
30483796, 36209140 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
34117688 |
| Stomach Neoplasms |
Associate
|
32512188 |
|